ZMP
IMPG1 (2 of 2)
Ensembl ID:
Description:
interphotoreceptor matrix proteoglycan 1 [Source:HGNC Symbol;Acc:6055]
Human Orthologue:
IMPG1
Human Description:
interphotoreceptor matrix proteoglycan 1 [Source:HGNC Symbol;Acc:6055]
Mouse Orthologue:
Impg1
Mouse Description:
interphotoreceptor matrix proteoglycan 1 Gene [Source:MGI Symbol;Acc:MGI:1926876]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa36470 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa28895 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa36470
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113892 | Nonsense | 3 | 827 | 1 | 14 |
Genomic Location (Zv9):
Chromosome 17 (position 36807103)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 36692000 |
| GRCz11 | 17 | 36639585 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTCTGGAGACTCCGCAACAAAACAGACAGTTGACAGATGGCAGAGATT[C/A]ACTTTCTCTAGACCGCCATCGTGCAAAGAGATCAGCGCTGTTTGGGACGG
Long Flanking Sequence:
TAGCAGTTGAAATTCAGTATTCTTGTTGGTATTCTCAAATTGACTTTCAATTTTAAATCAAAGATTATCTTTCAGCATTTTCTATCTAAAAGCTCTGTGATTCCATCCAAATGCATCCGGCTTACTAGAACCCGCGATCAGACCTTTGCTTCTCTTATCTGGTAAATGTGTTTAACATCTGCTGGGACAGTGTTATAACGGACTGCTTAACTTAGGCCTAATCCAATTAAAGGTTCATTCAGCATACTAATCATAGAGTTAAAGAGTTGCAAATGGTCTCAGAGCGTGCGTAATTACACGAAGTGTAATTATATGATCCATCAGCTTACTGTCCGCAACTAAAGTCAATCCGACTCTTCTAAAACAATGACCGCGTTCTGTTTTTGTGCCATTTGCAGAACCCACTGCTGACGACTTGGTTTTCAAGATCAGAAATGTGAAGTACAGGCACTTTCTGGAGACTCCGCAACAAAACAGACAGTTGACAGATGGCAGAGATT[C/A]ACTTTCTCTAGACCGCCATCGTGCAAAGAGATCAGCGCTGTTTGGGACGGGGGTGAAGGTCTGTCCTCAGGAGAGCATGGCGGAGGTCATCACCAGCCATAAAGCCTACTATAAACTCAGAGGTAGGACAACATCCACCCTTAGCGCCACCAGAGACAGAGCCTTCAGCATCACTGCCAAATTTGGCTACAACACCTCAGATACTCATAAATCATAATTAACTTCCCAATCGTTGGTAGCCTTCCGAGAGATGAAAGATCAAGCCAAGCTAAAAAAAAGTAGTGGCTTTGAGCCAAAAGTAGCATACTTTTTTTTAAAAAAAGCTTGTCTCTTTTTTAGCCTTTCAGTATAGATTTATACGCATTACTATAGTACTACAATGAAGCGAGGAAAGTAAAATTAAAGTAAAAAAAGAAAGCAAATCTTGTAAGACTGTAAAAGTAAATTGACTGAATTACAAGTTAAAGGAATGGAAATTGGCTTTATCAACAATATGTAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa28895
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113892 | Essential Splice Site | 100 | 827 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 17 (position 36816473)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 36701370 |
| GRCz11 | 17 | 36648955 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAAATGTTTTTGGCTTTATTGCACATTCTCAAACTTGTTTGTCATTTAC[A/T]GAGAGTGAACCAACTGGATGAACAGGATAGGTAAGAACCCGAAGATGATT
Long Flanking Sequence:
GTATGTTTCCCAGGGATGGGTTGCGGCTGGAAGGGCATCCGCTGTGTTAAAACGTGCTGGATGGGTTGGCGGTTCATTCCGCTGTGGCGACCCCAGATTAATAAAGGGACTAAGCCGACAAGAAATAGAATGAATGAAAAATCAAAAATAAAAATAAATAAATAATAAAATAAATAATTAAAAATAAAATTAATAATTTATTTACAATTTCTGCTCCATTAAATGTATGGAAAGTAACCCAACAATACAAATATTAGTTATTTAAAAATATTTTATTATCAAAAATACGCAGAGTTATGAAAGAGTTATGAAAAGGAGGCAGCTCAATCAGAATTTTGCACTCTAAATGTGCTGTTACAGCTTGGAAAGTAAATGTTGTCGGGGTTCTAAGAAAACAGTTTTGTTACTTTTCTTCCATGTTACTTTCATCCCCATTCTCTGCCAATATTATTAAATGTTTTTGGCTTTATTGCACATTCTCAAACTTGTTTGTCATTTAC[A/T]GAGAGTGAACCAACTGGATGAACAGGATAGGTAAGAACCCGAAGATGATTGAGGGCTTCTTGGTTTCAGTATATATGGTATGGCCATTTGCTTGTTTTCATTTTAGACTCAAACCCGTCAGAACATCTCGAATGAGGTCACCTGACTAGTGGGAGATGAGAAAATCTCAGCCTGTCCTTTGAAAAACAAAGTTTGTTCATATTTGGTGGCCTAGCTAAACACTGCTCTCTGACCTGATCCACTTTAATAAGAGGGATCCGTGCCCAGACATATTACGCTTGGGTGTTAGAGCCACACAAACACACTCAGGCTTATATGCAGTCAAGCCCTTTATCGGGGACAATGAATTTGATTGCATTTATCATTCTCGGATTGAGTCGTCCCTTCTCAACATGCTTTCAATTGTTTTTCAGGGCTCTCACACCTGCACCAGGCGAGAAATGTAAGTCCTCGCCATCCGGATGAGAAAGAAATGCTGGTTGATCTTATACAAACGTAAC
Associated Phenotype:
Not determined